Phenotype #0000015217

Individual ID 00016593
Associated disease MCAP
Phenotype details features:
- megalencephaly
- cerebellar tonsillar ectopia
- abnormal thick corpus callosum
- congenital somatic overgrowth
- somatic asymmetry/hemihypertrophy
- cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata
- syndactyly
- postaxial polydactyly
- hypotonia
- developmental delay
- frontal bossing
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Dennis Döcker
Database submission license No license selected
Created by Dennis Döcker
Date created 2014-05-14 20:03:28 +02:00 (CEST)
Date last edited 2016-11-25 10:00:01 +01:00 (CET)

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